PMID: 15389123Sep 25, 2004Paper

Analysis of factor VIII gene intron 1 inversion in Argentinian families with severe haemophilia A and a review of the literature

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
Liliana Carmen RossettiCarlos Daniel De Brasi

Abstract

Besides intron 22 factor VIII gene inversion (Inv22), intron 1 inversion (Inv1) has recently been reported as a further recurrent mutation that causes approximately 5% of severe haemophilia A (HA) cases. We analysed the presence of the Inv1 in a group of 64 severe HA-affected families from Argentina, and found only one positive case. This Inv1 patient has not developed a factor VIII inhibitor, and the screening for small mutations in the coding sequences of the factor VIII gene did not detect any additional defect in this case. The Inv1 genotyping was further applied to analyse the haemophilia carrier status of the proband's sister. In addition, we studied the accuracy of the current polymerase chain reaction-based method to investigate the Inv1, and confirmed the absence of amplimer length polymorphisms associated to the Inv1-specific polymerase chain reaction amplifications in 101 X-chromosome haplotypes from unrelated Argentinian healthy males. In order to discuss Inv1 mutation frequency in severe HA and the risk of inhibitor formation, a review of the literature was included. Our data highlight the importance of analysis of the Inv1 in Inv22-negative severe HA cases. This will benefit both genetic counselling and the study ...Continue Reading

References

Oct 21, 1991·Nucleic Acids Research·D K Lahiri, J I Nurnberger
Nov 22, 1984·Nature·J GitschierR M Lawn
Jan 13, 2000·Haemophilia : the Official Journal of the World Federation of Hemophilia·C De BrasiM De Tezanos Pinto

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Citations

Aug 31, 2010·Clinica Chimica Acta; International Journal of Clinical Chemistry·Preethi Satish NairKanjaksha Ghosh
Jul 31, 2008·Journal of Thrombosis and Haemostasis : JTH·A MohlR Schneppenheim
Jun 30, 2006·Journal of Thrombosis and Haemostasis : JTH·X-H CaiH-L Wang
Apr 26, 2014·Haemophilia : the Official Journal of the World Federation of Hemophilia·C de BrasiA Goodeve
Mar 20, 2010·Haemophilia : the Official Journal of the World Federation of Hemophilia·Y-C ChenT-Y Chao
Nov 5, 2016·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Mahmoud Shekari KhanianiSima Mansoori Derakhshan
Mar 1, 2012·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Nuzhat Jahan FaridiNuzhat Husain
Apr 18, 2018·Haemophilia : the Official Journal of the World Federation of Hemophilia·S H MousaviS Zeinali
Jan 11, 2007·American Journal of Hematology·Johanna Milena Mantilla-CapachoAna Rebeca Jaloma-Cruz
Jan 18, 2006·Internal Medicine·Ryuichi KawamotoAtsushi Kamitani
Jul 15, 2005·Pharmacogenomics·Deepak VooraBrian F Gage
Nov 7, 2017·Journal of Advances in Modeling Earth Systems·Timothy GlotfeltyYang Zhang
Jan 7, 2017·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Zhiping GuoYaofang Zhang

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